go back

THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2

THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE); THMD2
ENCEPHALOPATHY, THIAMINE-RESPONSIVE, BTBGD; SLC19A3
607483
OMIM = Online Mendelian Inheritance of Men
65284
Thiamine transporter 2
2q36.3
G93.8
rare
autosomal recessive
mutation in the SLC19A3 gene

Laboratory findings2,4-Dihydroxybutyric acid normal/inc (urine)
Sedoheptulose-7-phosphate normal/inc (urine)
    2-Hydroxyisovaleric acid inc (urine)
    L-Lactic acid normal/inc (plasma)
Symptomslactic acidosis
nystagmus
ophthalmoplegia
  basal ganglia, changes, lesions, calcifications (MRI, CT)
   ataxia
   dystonia
   Encephalopathic crisis, acute
   encephalopathy
   epilepsy
   hypertonia, spasticity
   MRI, brain, abnormalities [-]
   Parkinsonism
   seizures
    coma
    defect of walking, running, rising or climbing
    dysarthria
    dysphagia
    hypotonia
    irritability
    MRS, brain, abnormalities
    onset, adolescent
    onset, childhood
    onset, infancy
    onset, neonatal
    onset, variable age
    psychomotor retardation
    ptosis (drooping eyelid)
    swallowing difficulties
    weight loss